A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7014533



Internal ID10351276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:23089363..23101556hg38UCSC Ensembl
Innerchr7:23128982..23141175hg19UCSC Ensembl
Innerchr7:23095507..23107700hg18UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg3812194
hg1912194
hg1812194
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761138
Supporting Variants
SamplesRW_0666
Known GenesKLHL7-AS1
MethodMerging
AnalysisTwo different algorithms (PennCNV and Birdseye) were applied to detect CNVs. Only congruent CNV events regarding direction of effect that were detected by both algorithms were merged using the outer borders of the event in a first step. In a second step only CNVs that were detected in at least two individuals were merged into a CNVR.
PlatformMerging
Comments
ReferenceVogler_et_al_2010
Pubmed ID21179565
Accession Number(s)essv7014533
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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